三ヌクレオチド、トリヌクレオチド

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1. ハンチントン病：遺伝学と病因 huntington disease genetics and pathogenesis
2. 脆弱Ｘ症候群の出生前スクリーニングおよび診断 prenatal screening and diagnosis for fragile x syndrome
3. ハンチントン病：臨床的特徴および診断 huntington disease clinical features and diagnosis
4. 遺伝的変異の概要 overview of genetic variation
5. 脊髄小脳変性症 the spinocerebellar ataxias

English Journal

Sequencing analysis of the spinal bulbar muscular atrophy CAG expansion reveals absence of repeat interruptions.

Fratta P, Collins T, Pemble S, Nethisinghe S, Devoy A, Giunti P, Sweeney MG, Hanna MG, Fisher EM.Author information Department of Neurodegenerative Disease, UCL Institute of Neurology, Queen Square, London, UK; MRC Centre for Neuromuscular Disease, UCL Institute of Neurology, Queen Square, London, UK. Electronic address: p.fratta@prion.ucl.ac.uk.AbstractTrinucleotide repeat disorders are a heterogeneous group of diseases caused by the expansion, beyond a pathogenic threshold, of unstable DNA tracts in different genes. Sequence interruptions in the repeats have been described in the majority of these disorders and may influence disease phenotype and heritability. Spinal bulbar muscular atrophy (SBMA) is a motor neuron disease caused by a CAG trinucleotide expansion in the androgen receptor (AR) gene. Diagnostic testing and previous research have relied on fragment analysis polymerase chain reaction to determine the AR CAG repeat size, and have therefore not been able to assess the presence of interruptions. We here report a sequencing study of the AR CAG repeat in a cohort of SBMA patients and control subjects in the United Kingdom. We found no repeat interruptions to be present, and we describe differences between sequencing and traditional sizing methods.
Neurobiology of aging.Neurobiol Aging.2014 Feb;35(2):443.e1-3. doi: 10.1016/j.neurobiolaging.2013.07.015. Epub 2013 Sep 13.
Trinucleotide repeat disorders are a heterogeneous group of diseases caused by the expansion, beyond a pathogenic threshold, of unstable DNA tracts in different genes. Sequence interruptions in the repeats have been described in the majority of these disorders and may influence disease phenotype and
PMID 24041967

Impaired response inhibition is associated with self-reported symptoms of depression, anxiety, and ADHD in female FMR1 premutation carriers.

Kraan CM, Hocking DR, Georgiou-Karistianis N, Metcalfe SA, Archibald AD, Fielding J, Trollor J, Bradshaw JL, Cohen J, Cornish KM.Author information Faculty of Medicine, Nursing, and Health Sciences, School of Psychology & Psychiatry, Monash University, Clayton, Melbourne, Victoria, Australia.AbstractFragile X Mental Retardation 1 (FMR1) premutation carriers (PM-carriers) have a defective trinucleotide expansion on the FMR1 gene that is associated with continuum of neuropsychological and mental disorders. Currently, little is known about the distinct subcomponents of executive function potentially impaired in female PM-carriers, and there have been no investigations into associations between executive function and incidences of mental disorders. A total of 35 female PM-carriers confirmed by Asuragen triple primed PCR DNA testing and 35 age- and intelligence-matched controls completed tests of executive function (i.e., response inhibition and working memory) and self-reported on social anxiety, depression, and ADHD predominantly inattentive (ADHD-PI) symptoms. Compared to controls, PM-carriers were significantly elevated on self-reported social anxiety and ADHD-PI symptoms. Irrespective of mental symptoms, female PM-carries performed significantly worse than controls on a response inhibition test, and further investigations revealed significant correlations between executive function performance and self-reported symptoms of anxiety, depression and ADHD-PI. Critically, among PM-carriers with good executive function performance, no women exceeded threshold markers for probable caseness of mental disorder. However, rates of probable caseness were elevated in those with average performance (response inhibition: social anxiety: 41.7%; depression: 20%; ADHD: 44.4%; working memory: social anxiety: 27.3%; depression: 9.1%; ADHD: 18.2%) and highly elevated for those with poor executive function performance (response inhibition: social anxiety: 58.3%; depression: 80%; ADHD: 55.6%; working memory: social anxiety: 100%; depression: 50%; ADHD: 83.3%). These data suggest that subtle executive dysfunction may be a useful neuropsychological indicator for a range of mental disorders previously reported in female PM-carriers. © 2013 Wiley Periodicals, Inc.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.Am J Med Genet B Neuropsychiatr Genet.2014 Jan;165(1):41-51. doi: 10.1002/ajmg.b.32203. Epub 2013 Oct 26.
Fragile X Mental Retardation 1 (FMR1) premutation carriers (PM-carriers) have a defective trinucleotide expansion on the FMR1 gene that is associated with continuum of neuropsychological and mental disorders. Currently, little is known about the distinct subcomponents of executive function potential
PMID 24166828

Impact of bulge loop size on DNA triplet repeat domains: Implications for DNA repair and expansion.

Völker J, Plum GE, Gindikin V, Klump HH, Breslauer KJ.Author information Department of Chemistry and Chemical Biology, Rutgers, The State University of New Jersey, 610 Taylor Rd, Piscataway, NJ, 08854.AbstractRepetitive DNA sequences exhibit complex structural and energy landscapes, populated by metastable, noncanonical states, that favor expansion and deletion events correlated with disease phenotypes. To probe the origins of such genotype-phenotype linkages, we report the impact of sequence and repeat number on properties of (CNG) repeat bulge loops. We find the stability of duplexes with a repeat bulge loop is controlled by two opposing effects; a loop junction-dependent destabilization of the underlying double helix, and a self-structure dependent stabilization of the repeat bulge loop. For small bulge loops, destabilization of the underlying double helix overwhelms any favorable contribution from loop self-structure. As bulge loop size increases, the stabilizing loop structure contribution dominates. The role of sequence on repeat loop stability can be understood in terms of its impact on the opposing influences of junction formation and loop structure. The nature of the bulge loop affects the thermodynamics of these two contributions differently, resulting in unique differences in repeat size-dependent minima in the overall enthalpy, entropy, and free energy changes. Our results define factors that control repeat bulge loop formation; knowledge required to understand how this helix imperfection is linked to DNA expansion, deletion, and disease phenotypes. © 2013 Wiley Periodicals, Inc. Biopolymers 101: 1-12, 2014.
Biopolymers.Biopolymers.2014 Jan;101(1):1-12. doi: 10.1002/bip.22236.
Repetitive DNA sequences exhibit complex structural and energy landscapes, populated by metastable, noncanonical states, that favor expansion and deletion events correlated with disease phenotypes. To probe the origins of such genotype-phenotype linkages, we report the impact of sequence and repeat
PMID 23494673

Japanese Journal

Identification of the Geographic Origin of Dendrobium thyrsiflorum on Chinese Herbal Medicine Market Using Trinucleotide Microsatellite Markers

YUAN Ying Hui,HOU Bei Wei,XU Hui Jun [他]
Biological & pharmaceutical bulletin 34(12), 1794-1800, 2011-12-00
NAID 40019073300

Mining of EST-SSR markers in clam Meretrix meretrix larvae from 454 shotgun transcriptome

Wang Hongxia,Huan Pin,Lu Xia [他],LIU Baozhong
Genes & genetic systems 86(3), 197-205, 2011-06-25
… Dinucleotide SSR was the dominant repeat type (40.2%), followed by trinucleotide (37.8%), tetranuleotide (12.0%) and pentanucleotide (2.0%) SSR. … The dominant repeat motif was AT (71.3%) in the dinucleotide SSR type and AAC (45.6%) in the trinucleotide SSR type. … Specifically, the density of dinucleotide, trinucleotide and tetranucleotide repeats showed significant variation among four development stages (trochophore, D-veliger, pediveliger and postlarva). …
NAID 10029678951

Identification of the Geographic Origin of Dendrobium thyrsiflorum on Chinese Herbal Medicine Market Using Trinucleotide Microsatellite Markers

Yuan Ying Hui,Hou Bei Wei,Xu Hui Jun,Luo Jing,Ding Xiao Yu
Biological and Pharmaceutical Bulletin 34(12), 1794-1800, 2011
The stems of Dendrobium thyrsiflorum RCHB.F. ex ANDRé can be processed into an important class of Traditional Chinese Medicine named "Huangcao Shihu," which has diverse curative effects, such as …
NAID 130001872598